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Marit is 48 years old and until recently she had a job as a social worker. In her family mitochondrial disorders occur in various different forms. When she was around 25 years old the first symptoms appeared. As she already was aware that not much was to be done about it, Marit had the official diagnosis established only in 2001. She wanted to find her own way in life before the disease caught up with her.

“Nobody notices that I am ill as long as I am resting sufficiently. I can still walk a small distance, but the other day, when it got colder suddenly, my upper leg ‘locked’ and I could not make another step any more. And sometimes I feel exhausted for days. Yet, up to now I manage to crawl back again.”

For more than thirty years now Marit is having the perspective of the fact that some day the mitochondrial disease will increasingly be controlling her life. “In my family mitochondrial disease manifests itself around puberty. My mother was troubled by coordination difficulties and turned blind, but she was 74 when she died. My younger brother became ill when he was just 15 years young, starting with heart problems, and he has been seriously ill, with more and more complications, until he died at the age of 41. When his diagnosis was established, my mother, my sister and I recognized the symptoms. The illness in our family finally had a name.”

The decision of having children or not has been a process of years. “As the disease in our family is maternally inheritable, my sister took some inheritance consults as soon as this was possible. I myself chose not to have this investigated, and in the end I consciously made the decision of not having children. Even though our family does not seem to carry the most dramatic form of the disease, I could not see myself being able to take care of children in the long run. And I did not have a strong wish to have children anyway.”

Marit became a nurse and worked as a nurse until she was 27 when the job became physically too heavy for her. She decided to be trained as a social worker. She enjoyed her new career. “From the start I openly told my employers which physical problems I had, which was important because nobody could see on the outside that I was ill. By being open in telling others about the disease, people do not feel any hesitations anymore to ask what I can or cannot handle in my job. Thankfully, my employers turned out to be flexible and always came up with solutions. ”

With her future in mind Marit took another (post-graduate) training, as supervisor in social work, so that in the long run she would be able to adjust her work to her level of energy. In consultation with her employer she chose to reduce her working week from 24 to 12 hours a week, so that she had the time and energy to combine her work with the training.

“With this disease you always seem to be running behind the facts. Once you notice that your physical condition is getting worse, you need quick solutions. This is difficult for the people around you, because they have to respond and adjust accordingly. That is why you have to be open about the changes. I had to learn this myself, in adjusting little things, for example asking my visitors to take out the garbage as they were leaving. If you are open, nobody minds helping out.”

It was in 2001, years after the first symptoms, Marit officially had her diagnosis established. “Earlier it did not seem to be useful for me, because the already present knowledge in my family made it clear that not much was to be done about it anyway. Only when I started to need rehabilitation and practical adjustments in my house, it became useful to have a diagnosis. Subsequently I received rehabilitation treatments with logopedics for my speech and swallow problems and physical therapy for my back problems. Also, I had a stair lift and adjustments in my bathroom and kitchen installed.”

Marit’s partner supported her wherever he could, until he was diagnosed with terminal skin cancer. “I definitely wanted to take care of him in the time we had left together. The result was that I ended up with a burn-out. I totally lost control of the balance in my daily life. I was exhausted, unwell and constantly nauseous. I turned back to the rehabilitation plan and with the help of physiotherapy, psychological therapy and other disciplines I am learning how to regain the balance. Also I have to review the goals in my life. One of these is to look for a job as a supervisor in my own city rather than returning to my old job to which I had to travel a long way. Again, it is all about making my own choices.”

Marit noticed how hard it is to explain to others what mitochondrial disease entails exactly, even to and care specialists. “The present insight for rehabilitation is that everybody has to exercise. But with mitochondrial disease it is very important to know when you have to rest, and not to exercise too much. I always carry along with me the information from the patient organisation, but it still needs a lot of explaining.” She emphasizes that a good working relationship with your general physician is of the utmost importance.

Advices on practical aids can be very confronting. “In the last few years my back problems became more and more serious and physical therapy did not help anymore. Thus, the rehabilitation specialist advised me to start using a corset. I was shocked, and emotionally I was not ready for this. Therefore, I made my own choice not to use a corset for the time being. There are enough changes in my body and adjustments to which I have to get used.”

“Under these conditions friendships change over time. I can not join my friends in sportive events anymore. I lost a few friends over this, but I will not let myself to become an outcast. So I chose to be very open and transparent about my disease, and not mysterious. In this way it is easier for others to adjust themselve. Friendships are getting a whole new dimension.”

Marit’s work with adolescents has made her think about adolescents who are confronted with the diagnosis of mitochondrial disease. Young people should first find out what they really would like to do in life, what goals they want to achieve, before adjusting their whole life to the disease. Make your own choices first, is her advice.

Marit herself does everything possible to keep working: “If I am not able to work anymore, I would miss my professional contacts and being valued as a professional. I am more than just my disease. With this disease you can not do everything you want to, but it will make you utterly miserable if you never try. You must discover what makes you happy and then, maybe, adjust things to achieve this. The most important thing is to keep the control over your own life; you are your own director.”

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